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Article

Leber hereditary optic neuropathy - historical report in comparison with the current knowledge.

Gene - 15 Jan 2015

Piotrowska Agnieszka, Korwin Magdalena, Bartnik Ewa, Tońska Katarzyna

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is a genetic, maternally inherited disease caused by point mutations in the mitochondrial genome. LHON patients present with sudden, painless and usually bilateral loss of vision caused by optic nerve atrophy. The first clinical description of the disease was made by Theodor Leber, a German ophthalmologist, in 1871. Here we present his thorough notes about members of four...

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Identifiers

PMID: 25261848
DOI: 10.1016/j.gene.2014.09.048

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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